ObesityGECONCT01998750
Study to Investigate Genetic Causes of Severe Early Childhood Onset Obesity.
An observational study of Obesity, run by Columbia University at 2 sites in United States.
Trial summary
This study aims to investigate genetic causes of early childhood obesity. The investigators will enroll children and adults with severe early onset obesity (BMI > 99th percentile) diagnosed prior to 6 years of age. Read more about this study
- Who is it for?
- Ages Up to 80 years
- Conditions the study is for
- Obesity
- How many people
- 500 participants
- Where
- 2 sitesUnited States
- Study dates
- Feb 2014to Dec 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 80 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: This study will enroll children with BMI > 99th percentile for age noted prior to 6 years of age. Current age of the child can vary from 0-21 years.
Who may be able to join
- BMI > 99th percentile documented at age < 6 years of age
Who cannot join
- Known genetic causes of obesity
- Known Endocrine causes of obesity.
- Neurologic tumor, trauma or surgery
- Prior malignancy or transplant
- Known autoimmune diseases
- Edema of a known or unknown cause
- Prolonged steroid use.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States2 sites, 1 recruiting
- Active, not recruiting
Boston Children's Hospital
Boston, Massachusetts, 02115
- Recruiting
Columbia University Medical Center
New York, New York, 10032
Vidhu Thaker, MD, 212-851-5315, vvt2114@cumc.columbia.edu
About this study
Official title: Study to Identify Rare Genetic Variants Causing Severe Early Childhood Obesity
This study aims to investigate genetic causes of early childhood obesity.
The investigators will enroll children and adults with severe early onset obesity (BMI > 99th percentile) diagnosed prior to 6 years of age. The investigators will ask questions about the health and eating behavior of the participants, and perform a brief physical examination. The investigators will collect saliva or blood to perform genetic testing from the participants and invite family members to enroll in the study.
Read the detailed description
This is a clinical and genomic study designed to investigate monogenic causes of severe early childhood obesity.
Participants with severe early onset obesity will be identified by screening of the clinical database or referred for the study. These subjects will be invited to participate in the study. After obtaining informed consent, the investigators will obtain history on the proband and the family, and perform a brief examination in addition to collecting genetic material.
Targeted sequencing of genes associated with monogenic and syndromic forms of obesity will be performed using next-generation sequencing. In selected individuals with favorable family history, exome or whole genome sequencing will be performed. Functional analysis of newly identified variants will be performed where possible.
- Conditions
- Obesity
- Keywords
- obesity, genetics, early-onset, childhood
- Medical subject headings
- Obesity
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Early-onset severe obesity | The study will enroll individuals with early onset severe obesity (BMI > 99th percentile noted at an age < 6 years of age). Individuals with a known history of early onset obesity are eligible, regardless of their current age. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of known or novel genetic variants in genes that underlie obesity.
Identification of known or novel genetic variants in genes that underlie obesity.
Measured: 1.5-2 years
Secondary outcomes (1)
Prevalence of melanocortin receptor 4 mutations.
We will test the hypothesis that 1-3% of early onset obesity could be explained by carriage of mutation of monogenic obesity such as melanocortin receptor 4 in a mixed pediatric population.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Dec 2013 (estimated)
- Study startFeb 2014
- Primary completionDec 2026 (estimated)
- Study completionDec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for ObesityStudies of the same condition, open and under way.
- More trials run by Columbia UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Columbia University
- Sponsor type
- University, hospital or other
- Collaborators
- Boston Children's Hospital, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- Responsible party
- Principal investigator, Vidhu V. Thaker, Columbia University
- Investigators
- Vidhu Thaker, M.D., Principal investigator, Columbia University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01998750
- Sponsor's protocol ID
- AAAR0351
- Other IDs
- P00009351, 5K23DK110539-03
- Acronym
- GECO
- Status last verified
- Oct 2025
- First submitted
- 25 Nov 2013
- Last updated
- 21 Oct 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Deidentified data will be deposited in public databases at the end of the study
Publications
De Rosa MC, Chesi A, McCormack S, Zhou J, Weaver B, McDonald M, Christensen S, Liimatta K, Rosenbaum M, Hakonarson H, Doege CA, Grant SFA, Hirschhorn JN, Thaker VV. Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity. J Clin Endocrinol Metab. 2019 Jul 1;104(7):2961-2970. doi: 10.1210/jc.2018-02657.
PubMed 30811542Nigam S, Zhu M, Shoemaker AH, Gross AC, Fox CK, Thaker VV. Novel model of childhood appetitive traits in children with obesity. Int J Obes (Lond). 2025 Jun;49(6):1084-1091. doi: 10.1038/s41366-025-01747-z. Epub 2025 Mar 27.
PubMed 40148561
Study at a glance
From the registry record, last updated by the sponsor on 21 Oct 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study to Identify Rare Genetic Variants Causing Severe Early Childhood Obesity
- ClinicalTrials.gov ID
- NCT01998750
- Acronym / sponsor ID
- GECO / AAAR0351
- Conditions
- Obesity
- Keywords
- obesity, genetics, early-onset, childhood
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- Columbia UniversityUniversity, hospital or other
- Collaborators
- Boston Children's Hospital, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- Study start
- Feb 2014
- Primary completion
- Dec 2026 (estimated)
- Study completion
- Dec 2030 (estimated)
- First posted
- 2 Dec 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This study aims to investigate genetic causes of early childhood obesity.
The investigators will enroll children and adults with severe early onset obesity (BMI > 99th percentile) diagnosed prior to 6 years of age. The investigators will ask questions about the health and eating behavior of the participants, and perform a brief physical examination. The investigators will collect saliva or blood to perform genetic testing from the participants and invite family members to enroll in the study.
Detailed description
This is a clinical and genomic study designed to investigate monogenic causes of severe early childhood obesity.
Participants with severe early onset obesity will be identified by screening of the clinical database or referred for the study. These subjects will be invited to participate in the study. After obtaining informed consent, the investigators will obtain history on the proband and the family, and perform a brief examination in addition to collecting genetic material.
Targeted sequencing of genes associated with monogenic and syndromic forms of obesity will be performed using next-generation sequencing. In selected individuals with favorable family history, exome or whole genome sequencing will be performed. Functional analysis of newly identified variants will be performed where possible.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Early-onset severe obesity | – | –The study will enroll individuals with early onset severe obesity (BMI > 99th percentile noted at an age < 6 years of age). Individuals with a known history of early onset obesity are eligible, regardless of their current age. |
Who may qualify
- Ages
- Up to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- This study will enroll children with BMI > 99th percentile for age noted prior to 6 years of age. Current age of the child can vary from 0-21 years.
Key inclusion criteria (1 listed)
- BMI > 99th percentile documented at age < 6 years of age
Key exclusion criteria (7 listed)
- Known genetic causes of obesity
- Known Endocrine causes of obesity.
- Neurologic tumor, trauma or surgery
- Prior malignancy or transplant
- Known autoimmune diseases
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Identification of known or novel genetic variants in genes that underlie obesity.
Time frame: 1.5-2 years
Identification of known or novel genetic variants in genes that underlie obesity.
1 secondary outcome
Prevalence of melanocortin receptor 4 mutations.
Time frame: 2 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Oct 2025.
- Results publication: PubMed 30811542De Rosa MC, Chesi A, McCormack S, Zhou J, Weaver B, McDonald M, Christensen S, Liimatta K, Rosenbaum M, Hakonarson H, Doege CA, Grant SFA, Hirschhorn JN, Thaker VV. Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity. J Clin Endocrinol Metab. 2019 Jul 1;104(7):2961-2970. doi: 10.1210/jc.2018-02657.
- Derived from this study: PubMed 40148561Nigam S, Zhu M, Shoemaker AH, Gross AC, Fox CK, Thaker VV. Novel model of childhood appetitive traits in children with obesity. Int J Obes (Lond). 2025 Jun;49(6):1084-1091. doi: 10.1038/s41366-025-01747-z. Epub 2025 Mar 27.
- Individual participant dataSharing planned: No. Deidentified data will be deposited in public databases at the end of the study
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Vidhu Thaker, M.D. principal investigator
Columbia University
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Obesity, run by Columbia University at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 21 Oct 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Vidhu Thaker, M.D. (212-851-5315, vvt2114@cumc.columbia.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of known or novel genetic variants in genes that underlie obesity. (time frame: 1.5-2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01998750, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 21 Oct 2025.